A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571426



Internal ID16012149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8724825..8864606hg38UCSC Ensembl
Innerchr16:8818682..8958463hg19UCSC Ensembl
Innerchr16:8726183..8865964hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38139782
hg19139782
hg18139782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4906n54
Supporting Variantsnssv1150521
SamplesHGDP01291
Known GenesABAT, CARHSP1, PMM2, TMEM186
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571426
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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